Relationship between foveal cone specialization and pit morphology in albinism

Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. We recruite...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2014-07, Vol.55 (7), p.4186-4198
Hauptverfasser:	Wilk, Melissa A, McAllister, John T, Cooper, Robert F, Dubis, Adam M, Patitucci, Teresa N, Summerfelt, Phyllis, Anderson, Jennifer L, Stepien, Kimberly E, Costakos, Deborah M, Connor, Jr, Thomas B, Wirostko, William J, Chiang, Pei-Wen, Dubra, Alfredo, Curcio, Christine A, Brilliant, Murray H, Summers, C Gail, Carroll, Joseph
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Albinism, Oculocutaneous - diagnosis Albinism, Oculocutaneous - genetics Albinism, Oculocutaneous - physiopathology Cell Count Child DNA - genetics Electroretinography Eye Proteins - genetics Female Fovea Centralis - pathology Fovea Centralis - physiopathology Genetic Testing Humans Male Middle Aged Mutation Ophthalmoscopy Retinal Cone Photoreceptor Cells - metabolism Retinal Cone Photoreceptor Cells - pathology Tomography, Optical Coherence Visual Acuity Young Adult
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